Results 41 to 50 of about 92,072 (315)

Sleep, anxiety and challenging behaviour in children with intellectual disability and/or autism spectrum disorder

, 2011
Children with an intellectual disability (ID) and/or autism spectrum disorder (ASD) are known to suffer from significantly more sleep problems, anxiety and challenging behaviour (CB) than typically developing children (TD), yet little is known about the ...
Rzepecka, Halina, McClure, Iain, Karen McKenzie, Iain McClure, Halina Rzepecka, McKenzie, Karen, Murphy, Shona, Shona Murphy   +7 more
core   +1 more source

Quality Care for People with Intellectual Disability and Advanced Dementia: Guidance on Service Provision [PDF]

, 2018
Purpose of Report: The International Summit on Intellectual Disability and Dementia (Glasgow, Scotland; October 2016) noted that advanced dementia can be categorized as that stage of dementia progression characterized by significant losses in cognitive ...
Fortea, Juan, McCarron, Mary, Watchman, Karen, Hogan, Mary, Reilly, Evelyn, McCallion, Philip, Stemp, Sandy, Service, Kathy, Janicki, Matthew P, Coppus, Antonia   +9 more
core   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Case report: Pitt-Hopkins like syndrome with CNTNAP2 mutation

Egyptian Journal of Medical Human Genetics, 2020
Background Pitt-Hopkins syndrome (PHS) is a rare cause of severe intellectual disability, seizures, language impairment, and peculiar facial dysmorphism. It is caused by a mutation in transcription factor 4 (TCF4).
Sawsan AlBaazi, Hula Shareef
doaj   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

On Not Being Noticed: Intellectual Disabilities and the Nonvocal Register. [PDF]

, 2007
Gestures unaccompanied by sound risk not being registered by their intended recipient. We chart examples of this in a video recording of a meeting between people with intellectual disabilities and support staff.
W.M.L. Finlay (7188023), Simpson, Murray, C. Walton, Walton, Chris, C. Antaki, Chris Walton (7188026), Finlay, W.M.L, Antaki, Charles, Charles Antaki (1254516), W. M. L. Finlay   +9 more
core   +1 more source

Quantifying the Impact of Ocrelizumab on Paramagnetic Rim Lesions in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Paramagnetic rim lesions (PRLs) are a subset of chronic active multiple sclerosis (MS) lesions marked by iron‐laden microglia and macrophages. Ocrelizumab, a monoclonal antibody targeting CD20+ B cells, suppresses acute MS activity, but its effect on PRLs remains unclear. In a longitudinal study of 29 ocrelizumab‐treated patients with at least
Kimberly H. Markowitz, Neha V. Safi, Iliana Pliska‐Bloch, Ulrike W. Kaunzner, Ha Luu, Mert Sisman, Yi Wang, Thanh D. Nguyen, Sandra Hurtado Rúa, Susan A. Gauthier   +9 more
wiley   +1 more source

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy

BMC Medical Genomics, 2020
Background Wolf-Hirschhorn syndrome is a well-characterized genomic disorder caused by 4p16.3 deletions. Wolf-Hirschhorn syndrome patients exhibit characteristic facial dysmorphism, growth retardation, developmental delay, intellectual disability and ...
Xuyun Hu, Di Wu, Yuchuan Li, Liya Wei, Xiaoqiao Li, Miao Qin, Hongdou Li, Mengting Li, Shaoke Chen, Chunxiu Gong, Yiping Shen   +10 more
doaj   +1 more source

Individuals with Down Syndrome: Editorial

Brain Sciences, 2022
Down syndrome (DS) is the most common syndromic cause of intellectual disability, so it has long been of interest to researchers [...]
Silvia Lanfranchi, Chiara Meneghetti, Enrico Toffalini, Barbara Carretti   +3 more
doaj   +1 more source